K63* (p.Lys63Ter) variant of FGA (Fibrinogen alpha chain)
K63* (p.Lys63Ter) in FGA (Fibrinogen alpha chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
K63* (p.Lys63Ter) variant details
- p.Lys63Ter
- rs1184440187
- ClinVar RCV005418812
- TOPMed rs1184440187
- gnomAD rs1184440187
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.72
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)